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Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein

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dc.contributor.author Kim, Sun-Yong en
dc.contributor.author Hakoshima, Toshio en
dc.contributor.author Kitano, Ken en
dc.date.accessioned 2016-08-31T04:34:22Z en
dc.date.available 2016-08-31T04:34:22Z en
dc.date.issued 2013-11-21 en
dc.identifier.issn 2045-2322 en
dc.identifier.uri http://hdl.handle.net/10061/10987 en
dc.description.abstract Bloom syndrome is a rare genetic disorder characterized by genomic instability and cancer predisposition. The disease is caused by mutations of the Bloom syndrome protein (BLM). Here we report the crystal structure of a RecQ C-terminal (RQC) domain from human BLM. The structure reveals three novel features of BLM RQC which distinguish it from the previous structures of the Werner syndrome protein (WRN) and RECQ1. First, BLM RQC lacks an aromatic residue at the tip of the β-wing, a key element of the RecQ-family helicases used for DNA-strand separation. Second, a BLM-specific insertion between the N-terminal helices exhibits a looping-out structure that extends at right angles to the β-wing. Deletion mutagenesis of this insertion interfered with binding to Holliday junction. Third, the C-terminal region of BLM RQC adopts an extended structure running along the domain surface, which may facilitate the spatial positioning of an HRDC domain in the full-length protein. ja
dc.language.iso en en
dc.publisher Nature Publishing Group en
dc.rights c The Authors en
dc.subject DNA-binding proteins en
dc.subject Homologous recombination en
dc.subject Tumour-suppressor proteins en
dc.subject X-ray crystallography en
dc.title Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein en
dc.type.nii Journal Article en
dc.contributor.transcription キム, スンヨン ja
dc.contributor.transcription ハコシマ, トシオ ja
dc.contributor.transcription キタノ, ケン ja
dc.contributor.alternative 金, 善龍 ja
dc.contributor.alternative 箱嶋, 敏雄 ja
dc.contributor.alternative 北野, 健 ja
dc.textversion Publisher en
dc.identifier.jtitle Scientific Reports en
dc.identifier.volume 3 en
dc.relation.doi 10.1038/srep03294 en
dc.identifier.url http://www.nature.com/articles/srep03294#supplementary-information en
dc.identifier.artnum 3294 en
dc.identifier.NAIST-ID 73292344 en
dc.identifier.NAIST-ID 73292567 en
dc.identifier.NAIST-ID 73295438 en
dc.relation.pmid 24257077 en


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